GTF2IRD1 Antibody (N-term)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application
| WB, E |
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Primary Accession | Q9UHL9 |
Other Accession | NP_005676.2 |
Reactivity | Human |
Host | Rabbit |
Clonality | Polyclonal |
Isotype | Rabbit IgG |
Calculated MW | 106057 Da |
Antigen Region | 79-108 aa |
Gene ID | 9569 |
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Other Names | General transcription factor II-I repeat domain-containing protein 1, GTF2I repeat domain-containing protein 1, General transcription factor III, MusTRD1/BEN, Muscle TFII-I repeat domain-containing protein 1, Slow-muscle-fiber enhancer-binding protein, USE B1-binding protein, Williams-Beuren syndrome chromosomal region 11 protein, Williams-Beuren syndrome chromosomal region 12 protein, GTF2IRD1 |
Target/Specificity | This GTF2IRD1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 79-108 amino acids from the N-terminal region of human GTF2IRD1. |
Dilution | WB~~1:1000 |
Format | Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification. |
Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
Precautions | GTF2IRD1 Antibody (N-term) is for research use only and not for use in diagnostic or therapeutic procedures. |
Name | GTF2IRD1 |
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Synonyms | CREAM1, GTF3, MUSTRD1, RBAP2, WBSCR11, W |
Function | May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow- twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity). |
Cellular Location | Nucleus. |
Tissue Location | Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested |
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Background
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq].
References
Antonell, A., et al. J. Med. Genet. 47(5):312-320(2010)
Palmer, S.J., et al. J. Biol. Chem. 285(7):4715-4724(2010)
Trynka, G., et al. Gut 58(8):1078-1083(2009)
Dai, L., et al. Am. J. Med. Genet. A 149A (3), 302-314 (2009) :
Lazebnik, M.B., et al. J. Biol. Chem. 283(17):11078-11082(2008)
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